Mutations Profile In Chinese Patients With Hypertrophic Cardiomyopathy And Correlation Between Genotype And Phenotype

Objective : To study the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy(HCM),and to analyze the correlation between the genetype and phenotype.Method: Four unrelated Chinese families with HCM were chosen for the study. The exon in the functional regions of the beta myosin heavy chain gene were amplified with PCR and the products were sequenced. The relation between the genetype and phenotype was analyzed.Result: One mutation was indentified in exon 19 in one family. The mutation of Arg694Leu was firstly identified both in Chinese and in foreigners, while the results of genetic test were normal in one hundred controls.Conclusion : Beta-myosin heavy chain gene might be one of the main disease-causing genes in Chinese with FHCM. It showed a relatively innocuous phenotype: The symptoms occur later and survival prognosis is good. Sudden death and dilated atrial are rare. All above data suggest the mutation of Arg694Leu is a relatively innocuous type.